Multimodal neuroimaging alterations and host genetic associations in patients with rhegmatogenous retinal detachment: a transcriptomic-neuroimaging study

Previous neuroimaging studies have identified functional and structural changes in the gray matter of rhegmatogenous retinal detachment (RRD) patients, yet the genetic mechanisms behind these alterations remain unclear. We employed multimodal imaging to investigate gray matter alterations in RRD patients. A transcriptome-neuroimaging spatial correlation analysis, integrating gene expression data from the Allen Human Brain Atlas, identified genes linked to functional stability changes. We followed this with gene enrichment, protein-protein interaction (PPI) network mapping, and expression profiling. RRD patients showed distinct, sustained dynamic balance within the default mode network functionally, and a significant reduction in gray matter volume in the visual network region structurally, compared with healthy controls. Transcriptome-neuroimaging correlation analysis revealed a spatial link between functional and structural changes and the expression profiles of 165 genes involved in membrane organization, neurodegeneration, phagocytosis, and calcium signaling. These genes form a highly interconnected PPI network, centered around key hub genes. Tissue- and cell-specific expression analysis highlighted a distinct gene expression pattern, especially in D1 receptor-positive cells in the caudate-putamen. Our findings indicate alterations in gray matter function and structure in RRD patients, particularly in regions involved in visual and cognitive processing. Transcriptomic neuroimaging analysis reveals that these changes are linked to the expression of multiple genes, shedding light on potential genetic mechanisms underlying RRD-associated gray matter modifications and offering new insights for treatment and prognosis.